Optical genome mapping and long-read sequencing uncovered a tiny balanced rearrangement that separated PAX6 from its control region, explaining classic aniridia after prior testing was negative.
In advanced head and neck squamous cell carcinoma, pretreatment weight loss and low prognostic nutritional index were linked to shorter progression-free survival after immunotherapy, while baseline BMI was not predictive.
This study links PCOS-related miscarriage risk to gut microbiome changes, especially reduced Parabacteroides merdae and higher isoleucine, which may promote endometrial senescence and impair pregnancy outcomes.
In radioiodine-avid metastatic differentiated thyroid cancer, rhTSH and mixed rhTSH/thyroid hormone withdrawal preparation produced comparable adjusted outcomes. Prognosis was driven mainly by metastatic burden and age, supporting individua
This international study found that biopsy of pheochromocytoma and paraganglioma had low mortality and low serious complication rates, suggesting biopsy may be reasonable in carefully selected patients with expert management.
In the GHSG HD21 trial, a validated ctDNA assay showed that MRD positivity after two treatment cycles strongly predicted inferior progression-free survival and improved early risk stratification, especially when combined with interim PET.
A large multicohort and experimental study suggests the cTnI/cTnT ratio is biologically informative, separates acute from chronic myocardial injury, and modestly improves type 1 versus type 2 MI discrimination.
A multicenter retrospective study suggests that MDS with isolated del(5q) and TP53 multihit alterations has substantially better survival than other low-blast TP53-multihit MDS, challenging how this subgroup should be classified.
A new five-component biomarker panel, MAPI, showed consistent AUROC performance of about 0.75 for detecting MetALD-ALD and may help triage confirmatory PEth testing in steatotic liver disease.
A large meta-analysis shows MRD strongly predicts outcomes for individual patients with CLL, but is an inconsistent trial-level surrogate for progression-free survival, particularly with BTK inhibitor and venetoclax-based regimens.
A Spanish multicenter validation study shows that urinary free cortisol expressed as multiples of the upper limit of normal can meaningfully stratify the likelihood of ectopic ACTH secretion versus Cushing’s disease.
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